{
    "disease_id": "DOID:0110285",
    "recommended_name": {
        "id": "DOID:0110285",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110285",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2Q",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110285",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110285",
            "name": "LGMD2Q",
            "description": ""
        },
        {
            "id": "DOID:0110285",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110285",
            "name": "muscular dystrophy, limb-girdle, type 2Q",
            "description": ""
        },
        {
            "id": "DOID:0110285",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110285",
            "name": "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013390",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2Q",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases."
        },
        {
            "id": "MONDO:0013390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013390",
            "name": "LGMD2Q",
            "description": ""
        },
        {
            "id": "MONDO:0013390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013390",
            "name": "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013390",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 17",
            "description": ""
        },
        {
            "id": "MONDO:0013390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013390",
            "name": "muscular dystrophy, limb-girdle, type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0013390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013390",
            "name": "limb-girdle muscular dystrophy type 2Q",
            "description": ""
        },
        {
            "id": "MIM:613723",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613723",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 17",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 17"
        }
    ]
}